Liu Xiaoli, Peng Linna, Li Dandan, He Chunjuan, Xing Shishi, Wang Yuhe, He Yongjun
Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, People's Republic of China.
Department of Clinical Laboratory, The Affiliated Hospital of Xizang Minzu University, Xianyang, People's Republic of China.
Int J Gen Med. 2021 May 28;14:2147-2159. doi: 10.2147/IJGM.S291395. eCollection 2021.
Rheumatoid arthritis (RA), an autoimmune systemic inflammatory disease, largely resulted from genetic factor. Our purpose was to explore the association for and genetic variants with RA susceptibility in the Chinese Han population.
A total of 508 RA patients and 494 controls were involved in this case-control study; single-nucleotide polymorphisms (SNPs) genotyping was identified by the Agena MassARRAY platform. The relationship between polymorphisms and RA susceptibility was calculated using the Pearson's Chi-square test with odds ratios and 95% confidence intervals (CIs) in multiple genetic models. The Pearson's Chi-square test and Student's -test were used for sample basic characteristic analysis. And linkage disequilibrium (LD) analysis and haplotype analysis were performed by logistic regression analysis.
The result from this study showed that rs2072472 () was an increased risk factor of RA (adjusted OR = 1.41, = 0.011). Stratified analysis indicated SNPs rs10490571, rs956730, rs3917318 of , and SNPs rs4851527, rs719250, rs3218896, rs3218977, rs2072472 of had impacts on RA risk after stratification based on gender and average age (54 years). Finally, haplotype analysis revealed that AA haplotype in was related to a decreased RA risk (adjusted OR = 0.79; 95% CI = 0.65-0.94; = 0.010). Yet, rs3917225() and rs11674595() were not significant in RA association analysis.
We determined SNPs (rs3917318, rs956730, rs1049057) of and SNPs (rs3218977, rs719250, rs4851527, rs3218896, rs2072472) of were correlated with the RA susceptibility in the Chinese Han population.
类风湿关节炎（RA）是一种自身免疫性全身性炎症性疾病，很大程度上由遗传因素引起。我们的目的是探讨中国汉族人群中[具体基因名称1]和[具体基因名称2]基因变异与RA易感性的关联。
本病例对照研究共纳入508例RA患者和494例对照；通过Agena MassARRAY平台进行单核苷酸多态性（SNP）基因分型。采用Pearson卡方检验计算多基因模型中多态性与RA易感性的关系，并计算比值比和95%置信区间（CI）。Pearson卡方检验和Student's t检验用于样本基本特征分析。通过逻辑回归分析进行连锁不平衡（LD）分析和单倍型分析。
本研究结果表明，rs2072472（[具体基因名称2]）是RA的一个风险增加因素（校正OR = 1.41，P = 0.011）。分层分析表明，基于性别和平均年龄（54岁）分层后，[具体基因名称1]的SNP rs10490571、rs956730、rs3917318，以及[具体基因名称2]的SNP rs4851527、rs719250、rs3218896、rs3218977、rs2072472对RA风险有影响。最后，单倍型分析显示，[具体基因名称1]中的AA单倍型与RA风险降低相关（校正OR = 0.79；95%CI = 0.65 - 0.94；P = 0.010）。然而，rs3917225（[具体基因名称1]）和rs11674595（[具体基因名称2]）在RA关联分析中无统计学意义。
我们确定了[具体基因名称1]的SNP（rs3917318、rs956730、rs1049057）和[具体基因名称2]的SNP（rs3218977、rs719250、rs4851527、rs3218896、rs2072472）与中国汉族人群的RA易感性相关。
